2025-05-09 19:15:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014212 2100 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens homeobox C11 (HOXC11), mRNA. ACCESSION NM_014212 VERSION NM_014212.3 GI:84043954 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2100) AUTHORS McIlroy,M., McCartan,D., Early,S., O Gaora,P., Pennington,S., Hill,A.D. and Young,L.S. TITLE Interaction of developmental transcription factor HOXC11 with steroid receptor coactivator SRC-1 mediates resistance to endocrine therapy in breast cancer [corrected] JOURNAL Cancer Res. 70 (4), 1585-1594 (2010) PUBMED 20145129 REMARK GeneRIF: HOXC11 and SRC-1 cooperate to regulate expression of the calcium-binding protein S100beta in resistant breast cancer cells. Erratum:[Cancer Res. 2010 Apr 15;70(8):3413] REFERENCE 2 (bases 1 to 2100) AUTHORS Zhang,X., Hamada,J., Nishimoto,A., Takahashi,Y., Murai,T., Tada,M. and Moriuchi,T. TITLE HOXC6 and HOXC11 increase transcription of S100beta gene in BrdU-induced in vitro differentiation of GOTO neuroblastoma cells into Schwannian cells JOURNAL J. Cell. Mol. Med. 11 (2), 299-306 (2007) PUBMED 17488478 REMARK GeneRIF: HOXC11 increases transcription of S100beta gene in BrdU-induced in vitro differentiation of GOTO neuroblastoma cells into Schwann cells. REFERENCE 3 (bases 1 to 2100) AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z., Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S., McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J., Dunham,I., Hill,D.E. and Vidal,M. TITLE hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes JOURNAL Genomics 89 (3), 307-315 (2007) PUBMED 17207965 REFERENCE 4 (bases 1 to 2100) AUTHORS Kosaki,K., Kosaki,R., Suzuki,T., Yoshihashi,H., Takahashi,T., Sasaki,K., Tomita,M., McGinnis,W. and Matsuo,N. TITLE Complete mutation analysis panel of the 39 human HOX genes JOURNAL Teratology 65 (2), 50-62 (2002) PUBMED 11857506 REFERENCE 5 (bases 1 to 2100) AUTHORS Mitchelmore,C., Troelsen,J.T., Sjostrom,H. and Noren,O. TITLE The HOXC11 homeodomain protein interacts with the lactase-phlorizin hydrolase promoter and stimulates HNF1alpha-dependent transcription JOURNAL J. Biol. Chem. 273 (21), 13297-13306 (1998) PUBMED 9582375 REFERENCE 6 (bases 1 to 2100) AUTHORS Flagiello,D., Gibaud,A., Dutrillaux,B., Poupon,M.F. and Malfoy,B. TITLE Distinct patterns of all-trans retinoic acid dependent expression of HOXB and HOXC homeogenes in human embryonal and small-cell lung carcinoma cell lines JOURNAL FEBS Lett. 415 (3), 263-267 (1997) PUBMED 9357979 REFERENCE 7 (bases 1 to 2100) AUTHORS Apiou,F., Flagiello,D., Cillo,C., Malfoy,B., Poupon,M.F. and Dutrillaux,B. TITLE Fine mapping of human HOX gene clusters JOURNAL Cytogenet. Cell Genet. 73 (1-2), 114-115 (1996) PUBMED 8646877 REFERENCE 8 (bases 1 to 2100) AUTHORS Acampora,D., D'Esposito,M., Faiella,A., Pannese,M., Migliaccio,E., Morelli,F., Stornaiuolo,A., Nigro,V., Simeone,A. and Boncinelli,E. TITLE The human HOX gene family JOURNAL Nucleic Acids Res. 17 (24), 10385-10402 (1989) PUBMED 2574852 REFERENCE 9 (bases 1 to 2100) AUTHORS Rabin,M., Ferguson-Smith,A., Hart,C.P. and Ruddle,F.H. TITLE Cognate homeo-box loci mapped on homologous human and mouse chromosomes JOURNAL Proc. Natl. Acad. Sci. U.S.A. 83 (23), 9104-9108 (1986) PUBMED 2878432 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC012531.11, AJ000041.1 and BC001543.1. On Dec 29, 2005 this sequence version replaced gi:24497534. Summary: This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC001543.1, AK291946.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025095 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-152 AC012531.11 110730-110881 153-1383 AJ000041.1 81-1311 1384-1779 BC001543.1 1365-1760 1780-2100 BC001543.1 1762-2082 FEATURES Location/Qualifiers source 1..2100 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q13.3" gene 1..2100 /gene="HOXC11" /gene_synonym="HOX3H" /note="homeobox C11" /db_xref="GeneID:3227" /db_xref="HGNC:5123" /db_xref="HPRD:09275" /db_xref="MIM:605559" exon 1..798 /gene="HOXC11" /gene_synonym="HOX3H" /inference="alignment:Splign:1.39.8" variation 5 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="t" /db_xref="dbSNP:187224438" misc_feature 69..71 /gene="HOXC11" /gene_synonym="HOX3H" /note="upstream in-frame stop codon" variation 77 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:372792014" variation 86 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:372496237" variation 99 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:374141798" variation 104 /gene="HOXC11" /gene_synonym="HOX3H" /replace="g" /replace="t" /db_xref="dbSNP:377372195" variation 110 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:200921214" CDS 117..1031 /gene="HOXC11" /gene_synonym="HOX3H" /note="homeo box C11; homeobox protein Hox-3H" /codon_start=1 /product="homeobox protein Hox-C11" /protein_id="NP_055027.1" /db_xref="GI:7657166" /db_xref="CCDS:CCDS8867.1" /db_xref="GeneID:3227" /db_xref="HGNC:5123" /db_xref="HPRD:09275" /db_xref="MIM:605559" /translation="
MFNSVNLGNFCSPSRKERGADFGERGSCASNLYLPSCTYYMPEFSTVSSFLPQAPSRQISYPYSAQVPPVREVSYGLEPSGKWHHRNSYSSCYAAADELMHRECLPPSTVTEILMKNEGSYGGHHHPSAPHATPAGFYSSVNKNSVLPQAFDRFFDNAYCGGGDPPAEPPCSGKGEAKGEPEAPPASGLASRAEAGAEAEAEEENTNPSSSGSAHSVAKEPAKGAAPNAPRTRKKRCPYSKFQIRELEREFFFNVYINKEKRLQLSRMLNLTDRQVKIWFQNRRMKEKKLSRDRLQYFSGNPLL
" misc_feature 240..668 /gene="HOXC11" /gene_synonym="HOX3H" /note="Protein of unknown function (DUF3528); Region: DUF3528; pfam12045" /db_xref="CDD:152480" misc_feature 813..983 /gene="HOXC11" /gene_synonym="HOX3H" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(813..827,831..833,882..884,900..902,939..941, 945..950,957..962,966..974,978..983) /gene="HOXC11" /gene_synonym="HOX3H" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(819..821,828..830,948..950,957..962,969..971) /gene="HOXC11" /gene_synonym="HOX3H" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation 128 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:201521088" variation 134 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:34028255" variation 152 /gene="HOXC11" /gene_synonym="HOX3H" /replace="g" /replace="t" /db_xref="dbSNP:4759315" variation 164 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:141903332" variation 173 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:146084910" variation 190 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:199765463" variation 214 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:374603975" variation 259 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:17849492" variation 280 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:367629889" variation 301 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:374695143" variation 307 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:201705157" variation 325..326 /gene="HOXC11" /gene_synonym="HOX3H" /replace="" /replace="c" /db_xref="dbSNP:35477816" variation 357 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:367923255" variation 374 /gene="HOXC11" /gene_synonym="HOX3H" /replace="g" /replace="t" /db_xref="dbSNP:372124938" variation 404 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:201200152" variation 420 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:375478114" variation 471 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:34528355" variation 475 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:369638511" variation 480 /gene="HOXC11" /gene_synonym="HOX3H" /replace="g" /replace="t" /db_xref="dbSNP:372700015" variation 490 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:140041271" variation 500 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:143575026" variation 501 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:202055341" variation 504 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:34652380" variation 505 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:146287117" variation 521 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:139414813" variation 522 /gene="HOXC11" /gene_synonym="HOX3H" /replace="g" /replace="t" /db_xref="dbSNP:149946964" variation 527 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:71455261" variation 541 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:145009440" variation 569 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="c" /db_xref="dbSNP:377285184" variation 587 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:377159561" variation 603 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:200941742" variation 657 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:370804226" variation 781 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:12427129" exon 799..2055 /gene="HOXC11" /gene_synonym="HOX3H" /inference="alignment:Splign:1.39.8" STS 804..1138 /gene="HOXC11" /gene_synonym="HOX3H" /standard_name="Hoxc11" /db_xref="UniSTS:536478" variation 842 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:201625483" variation 878 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:34788593" variation 881 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:142129926" variation 883 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:369182704" variation 889 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:147794352" variation 936 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="c" /db_xref="dbSNP:146931383" variation 946 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:372701237" variation 948 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:201917577" variation 1036 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:375083855" variation 1061 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:35418490" variation 1136 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:372600053" variation 1140 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:74089845" variation 1231 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:116201856" variation 1279 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="t" /db_xref="dbSNP:192439298" variation 1345 /gene="HOXC11" /gene_synonym="HOX3H" /replace="g" /replace="t" /db_xref="dbSNP:184352881" STS 1417..1653 /gene="HOXC11" /gene_synonym="HOX3H" /standard_name="G64260" /db_xref="UniSTS:166787" variation 1444 /gene="HOXC11" /gene_synonym="HOX3H" /replace="g" /replace="t" /db_xref="dbSNP:115278602" variation 1486..1487 /gene="HOXC11" /gene_synonym="HOX3H" /replace="" /replace="cccactactttagggggc" /db_xref="dbSNP:139041759" variation 1501..1502 /gene="HOXC11" /gene_synonym="HOX3H" /replace="" /replace="gccccactactttagggg" /db_xref="dbSNP:11267962" variation 1501 /gene="HOXC11" /gene_synonym="HOX3H" /replace="g" /replace="t" /db_xref="dbSNP:201258829" variation 1502..1503 /gene="HOXC11" /gene_synonym="HOX3H" /replace="" /replace="gccccactactttagggg" /db_xref="dbSNP:34095785" variation 1503..1507 /gene="HOXC11" /gene_synonym="HOX3H" /replace="" /replace="cccactactttagggggc" /db_xref="dbSNP:71068192" variation 1507..1516 /gene="HOXC11" /gene_synonym="HOX3H" /replace="" /replace="cccactactttagggggc" /db_xref="dbSNP:71912845" variation 1763..1764 /gene="HOXC11" /gene_synonym="HOX3H" /replace="" /replace="ttttt" /db_xref="dbSNP:374010882" variation 1779..1780 /gene="HOXC11" /gene_synonym="HOX3H" /replace="" /replace="ttta" /db_xref="dbSNP:75724555" variation 1815 /gene="HOXC11" /gene_synonym="HOX3H" /replace="a" /replace="g" /db_xref="dbSNP:190456317" variation 1903 /gene="HOXC11" /gene_synonym="HOX3H" /replace="c" /replace="g" /db_xref="dbSNP:3816152" variation 1957 /gene="HOXC11" /gene_synonym="HOX3H" /replace="g" /replace="t" /db_xref="dbSNP:140304286" variation 1960 /gene="HOXC11" /gene_synonym="HOX3H" /replace="g" /replace="t" /db_xref="dbSNP:3816153" variation 1969..1970 /gene="HOXC11" /gene_synonym="HOX3H" /replace="" /replace="tg" /db_xref="dbSNP:71734226" polyA_signal 2029..2034 /gene="HOXC11" /gene_synonym="HOX3H" polyA_site 2055 /gene="HOXC11" /gene_synonym="HOX3H" /experiment="experimental evidence, no additional details recorded" ORIGIN
gtgctcagagagagagagactaagacggataacgcgtcatctcgccttcccaaattttcccccctcgctagaccgggtccaaaacctccatccggagccggcaggagaggagaacgatgtttaactcggtcaacctgggcaacttctgctctccgtcgcgcaaggagaggggcgcagatttcggcgagcgagggagctgcgcctccaacctctatctgcccagttgcacttactacatgcccgagttctccacggtctcctccttcctgccccaggccccctctcgtcagatctcctatccctactcggcccaagtgcccccggtccgggaggtctcctacggcctggagccatccggcaagtggcaccatcggaacagctactcctcctgctatgcggcggccgacgagcttatgcaccgggagtgcctgcctccttccaccgtcaccgagatcctcatgaaaaacgaaggctcctacggcggccaccaccaccccagcgccccgcacgcaacccccgccggcttctactcctcagtcaacaagaacagcgtcctgcctcaagccttcgaccgtttcttcgacaacgcctactgcggtggcggcgacccgcccgccgagcccccctgctccggcaagggcgaggccaagggggagcccgaggcacccccggcctcgggactggcgtcccgggctgaggcgggtgccgaggcggaggctgaggaggagaacacaaatcccagctcgtccggttcagcccactccgtggccaaggagccggccaaaggagccgcccccaacgccccccgcacccgcaagaagcgctgcccttattcgaaattccagatccgggaactggagcgagagtttttcttcaacgtgtatatcaacaaagagaagcggctgcagctgtcccggatgctgaacctgacggaccgacaagtgaaaatttggtttcagaacagaaggatgaaagaaaagaaactgagcagagaccggctgcagtatttctcgggaaatcctctgctgtaacctgcagaccgggcccttttgggggcggggggaggggaaaattattttattttatttttattttttattttctaactcgtcttctttccgccggtggaaaactggactgtggccagggctggcccccaccgctgtggccggcactccattccggaacctcctggaccctctatctgactctcgctgtgggacagggaccgggcctggaaagggggtgaagggaagtgtctgatgcacggcgagtgaacaccgttggcgccgaggccaagactttgatttaaaagaaaacacacctcggcgacaatgtcttgctgctcggattaggtgggggaggggcgacagtagtgagcgcctgagccgaacaatcctcgaactaaaagccttcccttgcccatgtgaaaagatccgctaagacagcatgtctgccagcggaaacttctcgagctcccccctctaccccgccccaccttgccccactactttagggggcagctaaatgtgatcctgccttgctgtgaaatttctgtaccttcaacctggtgttaggtgtgcaaagtccgtgtcctacctccgtcttcgccaaggccccgcccgagcctagttgttctccccctgaatgtgtagaaccttcctttgaaatttcttaatcggtgcattgaggtttccacatctttttccaagcagtgccccacttcatggatttatagctatagtctatgcagtcgttacctcttttttttttttttttaagaaaattgaagattggggtggtggaggcagtagggagatgggattgggcacctcccccgtgctggggcctggatttttgtaaataaatttcccaagcgtttctttccacctggagggaaagggggggacgcccccagtgagattcaaatcacgcatctctactcctctgcgtgagtgcgtgtgtacatgtgcactccccaccctgctcccttcccagagggattgctgtgaaatttttttggtggcaaataaagataaatttcattctgttcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:3227 -> Molecular function: GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] evidence: IDA GeneID:3227 -> Molecular function: GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] evidence: IDA GeneID:3227 -> Biological process: GO:0001656 [metanephros development] evidence: IEA GeneID:3227 -> Biological process: GO:0001759 [organ induction] evidence: IEA GeneID:3227 -> Biological process: GO:0007492 [endoderm development] evidence: TAS GeneID:3227 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA GeneID:3227 -> Biological process: GO:0009954 [proximal/distal pattern formation] evidence: IEA GeneID:3227 -> Biological process: GO:0042733 [embryonic digit morphogenesis] evidence: IEA GeneID:3227 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA GeneID:3227 -> Biological process: GO:0060272 [embryonic skeletal joint morphogenesis] evidence: IEA GeneID:3227 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:3227 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:3227 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:3227 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA
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